Английская Википедия:Hoyeraal–Hreidarsson syndrome
Шаблон:Infobox medical condition (new) Hoyeraal–Hreidasson syndrome[1] is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita.[1][2] Being an X-linked disorder, Hoyeraal–Hreidasson syndrome primarily affects males. Patients typically present in early childhood with cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth restriction.[1] The primary cause of death in Hoyeraal–Hreidasson syndrome is bone marrow failure, but mortality from cancer and pulmonary fibrosis is also significant.[3][4][5]
Presentation
The currently recognized features are cerebellar hypoplasia, immunodeficiency, progressive bone marrow failure, and intrauterine growth restriction. Patients also commonly exhibit symptoms such as microcephaly, aplastic anemia, and intellectual disability.[2]
Overlap with dyskeratosis congenita
Patients with Hoyeraal–Hreidasson syndrome frequently present with the mucocutaneous triad of nail dysplasia, lacy skin pigmentation, and oral leukoplakia.Шаблон:Citation needed
Pathogenesis
Although the pathogenesis remains unknown, it is strongly suspected that the clinical sequelae of Hoyeraal–Hreidasson syndrome arise from the accelerated telomere shortening.[1] It has been associated with mutations in DKC1, TERT, RTEL1, TINF2, ACD, and PARN.[6][7]
Diagnosis
- NeuroimagingШаблон:Snd cerebellar hypoplasia/atrophy, small brainstem, thin corpus callosum and cerebral calcifications
- Molecular genetic testingШаблон:Snd for confirmation
Treatment
Current treatment is supportive:Шаблон:Citation needed
- The aplastic anemia and immunodeficiency can be treated by bone marrow transplantation.
- Supportive treatment for gastrointestinal complications and infections.
- Genetic counselling.
See also
References
External links
- Английская Википедия
- X-linked recessive disorders
- Rare genetic syndromes
- Syndromes affecting immunity
- Syndromes affecting the cerebellum
- Syndromes with microcephaly
- Syndromes affecting blood
- Syndromes with intellectual disability
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- Википедия
- Статья из Википедии
- Статья из Английской Википедии
